esv3310417
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Project Consortium et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 95 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3310417 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 68,474,015 (-23, +23) | 68,474,015 (-23, +23) |
| esv3310417 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 66,470,156 (-23, +23) | 66,470,156 (-23, +23) |
| esv3310417 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 63,981,751 (-23, +23) | 63,981,751 (-23, +23) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7839276 | mobile element insertion | SAMN00001696 | Sequencing | Split read mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7839276 | Remapped | Perfect | NC_000017.11:g.(68 473992_68474038)_( 68473992_68474038) ins288 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 68,474,015 (-23, +23) | 68,474,015 (-23, +23) |
| essv7839276 | Remapped | Perfect | NC_000017.10:g.(66 470133_66470179)_( 66470133_66470179) ins288 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 66,470,156 (-23, +23) | 66,470,156 (-23, +23) |
| essv7839276 | Submitted genomic | NC_000017.9:g.(639 81728_63981774)_(6 3981728_63981774)i ns288 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 63,981,751 (-23, +23) | 63,981,751 (-23, +23) |